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Genetic Threat as well as Phenotype Link of Major Open-Angle Glaucoma Depending on Rho-Kinase Gene Polymorphisms.
Pseudohypertriglyceridemia is an overestimation of serum triglyceride levels that may incorrectly lead to a diagnosis of hypertriglyceridemia. Glycerol kinase deficiency is a condition in which glycerol cannot be phosphorylated to glycerol-3-phosphate, resulting in elevated levels of serum glycerol. Laboratory assays that measure triglycerides indirectly may be affected by elevated glyerol levels and incorrectly report serum tryglyceride levels. We present a case of a novel missense mutation in the GK gene leading to isolated glycerol kinase deficiency and pseudohypertriglyceridemia in a male infant of a mother with gestational diabetes. This paper reviews glycerol kinase deficiency, describes the challenges in diagnosing pseudohypertriglyceridemia, and provides suggestions on improving diagnostic accuracy. Additionally, a potential maternal-fetal interaction between gestational diabetes and glycerol kinase deficiency is discussed.
Systemic manifestation of toxoplasmosis is commonly seen in immune-compromised individuals. Skin manifestations are seen commonly in conjunction with systemic features. Isolated cutaneous toxoplasmosis is extraordinarily rare in immunocompetent patients.
. A 64-year-old female presented to the Dermatology Outpatient Department (OPD), with a nonhealing ulcer over dorsum of the left hand for one year. The patient did not have any systemic diseases. Serology tests were negative. An incisional biopsy of the lesion revealed dense inflammatory cell infiltrates comprising predominantly of plasma cells and lymphocytes, multinucleated giant cells, and focal abscess formation in the dermis. Periodic Acid Schiff (PAS) stain showed organisms in the dermis with morphological resemblance to tachyzoites of Toxoplasma gondii.

Though rare, a possibility of primary cutaneous toxoplasmosis should always be considered and looked for, even in immunocompetent patients presenting with chronic nonhealing ulcers.
Though rare, a possibility of primary cutaneous toxoplasmosis should always be considered and looked for, even in immunocompetent patients presenting with chronic nonhealing ulcers.
Pulsatile tinnitus is a relatively common presentation in otolaryngology clinics, most cases of which have a treatable cause. This presentation warrants a thorough workup to identify treatable, and rule out life-threatening, etiologies. We present a case of a patient with pulsatile tinnitus arising from multiple dilated venous channels in the head and neck.
We present the case of a 65-year-old Caucasian female with a two-year history of progressive, bilateral pulsatile tinnitus, which had become debilitating. Computed-tomographic angiography (CTA) studies ruled out an intracranial vascular cause for her symptoms. However, computed tomography (CT) scanning and magnetic resonance imaging (MRI) revealed multiple dilated bilateral, low-flow, venous channels throughout the head and neck. The proximity of such dilated venous channels to the temporal bone provides a route for sound to be transmitted to the inner ear.

Arterial, venous, and systemic etiologies can cause pulsatile tinnitus. Arteriovenous malformations (AVMs) of the head and neck represent less than 1% of cases. In our patient, dilated low-flow venous malformations are the likely source of her symptoms, which is the first reported case in the literature.
Arterial, venous, and systemic etiologies can cause pulsatile tinnitus. Arteriovenous malformations (AVMs) of the head and neck represent less than 1% of cases. In our patient, dilated low-flow venous malformations are the likely source of her symptoms, which is the first reported case in the literature.Maxillary sinus floor elevation (sinus lift) is a widely recognized dental-surgical approach for dental implant placement. However, for an otorhinolaryngological high-risk patient with severe anatomic-structural impairments of the maxillary sinus drainage pathway, surgical intervention is recommended before sinus lift to avoid postsinus lift maxillary sinusitis. Here, we show a case that postsinus lift maxillary sinusitis in such a high-risk patient was noninvasively prevented by the collaboration of otorhinolaryngologist and dentist. A 48-year-old Japanese male intended to undergo a sinus lift for dental implant placement by periodontist. Otorhinolaryngologist found septal deviation, concha bullosa, the presence of Haller cell, and nasal mucosal swelling by the nasal allergy, while no sinusitis and diagnosed him as a "high-risk case" for postsinus lift maxillary sinusitis. The patient was administered preoperative topical steroid and leukotriene receptor antagonist in addition to perioperative antibiotic prophylaxis so that his complication was noninvasively prevented. Thus, this case suggested that consultation from dentist to otorhinolaryngologist provides benefit to the patients who have been diagnosed as "high-risk case" for postsinus lift maxillary sinusitis.The cervical thymic cyst (CTC) is a rare, benign neck mass that most commonly presents in the pediatric population. These entities can occur anywhere along the normal path of descent of the thymus from the mandible to the sternal notch, and extension into the mediastinum has been observed. The presentation of these masses is often characterized by a painless, enlarging neck mass in a child during the first decade of life. Although most patients are asymptomatic, abutment of the cyst against local structures has led to a variety of presentations including respiratory distress. Lusutrombopag clinical trial These rare lesions are noted to have a male predominance and most commonly present on the left side of the neck. We present the rare case of a 19-year-old male who presented with a left-sided painless, cystic neck mass. He underwent a computed tomography scan of the neck which showed a large cystic mass in the left neck deep to the sternocleidomastoid muscle. Preoperatively, the diagnosis of an infected third branchial cyst was favored. The lesion was completely excised in the operating room. Final pathology was consistent with a CTC. The CTC is an uncommon benign process that often presents as an asymptomatic cystic neck mass. Knowledge of the clinical presentation, diagnostic process, and treatment of these rare lesions is essential for the Otolaryngologist.
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